title: Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.
abstract: Cystic fibrosis (CF) is the most common lethal autosomal recessive disease in Caucasians, but rare in Asians. The mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene are responsible for CF. To date, less than 5 cases of CF have been reported and a few of them diagnosed based on the genotype of the CFTR gene in Korea. We encountered a 4-month-old Korean infant with CF and the diagnosis was confirmed by CFTR gene mutation analysis. The patient underwent surgical operation, due to meconium ileus at birth. He suffered by recurrent respiratory infections, failure to thrive, fatty liver with hepatomegaly, and cholestasis. The mutations of the CFTR gene were identified in the patient and his parents. The patient was a compound heterozygote with a nonsense mutation of c.263T>G, resulting in an amino acid change of p.Leu88X in exon 3. It was previously described in a Korean patient with CF. The other is a novel mutation; c.2089-2090insA mutation (p.Arg697LysfsX33) in exon 13. The mutation c.263T>G was inherited from his father, and the c.2089-2090insA mutation from his mother. Respiratory infection was recovered by supportive care, and cholestasis was improved slowly with sufficient feeding and supplementation of pancreatic exocrine enzymes. He is 19- month old now and shows catch-up growth. We report a novel CFTR mutation in a Korean infant with CF.
authors.affiliation: Department of Pediatrics, Medical Genetics Clinic and Laboratory, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Jung Min
authors.initials: JM
authors.lastname: Ko
authors.forename: Gu-Hwan
authors.initials: GH
authors.lastname: Kim
authors.forename: Kyung Mo
authors.initials: KM
authors.lastname: Kim
authors.forename: Soo-Jong
authors.initials: SJ
authors.lastname: Hong
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yoo
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002779:Cholestasis; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D007723:Korea; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016896:Treatment Outcome
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator